Report on the State of the Art of Rare Disease Activities in

Transcription

2014 REPORT ON THE STATE OF THE ART
OF RARE DISEASE ACTIVITIES IN EUROPE
STATE OF THE ART OF RARE DISEASE ACTIVITIES IN
SWITZERLAND
This work was financed by the EUCERD Joint Action: Working for Rare Diseases N° 2011 22 01
µ
2014 Report on the State of the Art of the Rare Disease Activities in Switzerland
This document has been produced by the Scientific Secretariat of the European Union Committee of
Experts on Rare Diseases (EUCERD) Joint Action through the EUCERD Joint Action: Working for Rare
Diseases (N° 2011 22 01, Coordinator: Kate Bushby, University of Newcastle, United Kingdom), within
the European Union’s Second Programme of Community Action in the Field of Health.
The European Union Committee of Experts on Rare Diseases (EUCERD) was established in 2009 and
its mandate ended in 2013. It is replaced from 2014 by the Commission Expert Group on Rare
Diseases. The EUCERD Joint Action continues to support the activities of the new Expert Group until
2015.
More information on the activities of the former European Union Committee of Experts on Rare
Diseases and the EUCERD Joint Action can be found at www.eucerd.eu.
Disclaimer:
The findings and conclusions in this report are those of the contributors and validating authorities,
who are responsible for the contents; the findings and conclusions do not necessarily represent the
views of the European Commission or national health authorities in Europe. Therefore, no statement
in this report should be construed as an official position of the European Commission or a national
health authority.
Copyright information:
The “2014 Report on the State of the Art of Rare Disease Activities” is copyrighted by the Scientific
Secretariat of the EUCERD Joint Action : Working for Rare Diseases (N° 2011 22 01). This product and
its contents may be used and incorporated into other* materials on the condition that the contents
are not changed in any way (including covers and front matter) and that no fee is charged by the
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EUCERD Joint Action Scientific Secretariat. Specifically:
1) When the document is reprinted, it must be reprinted in its entirety without any changes.
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To quote this document:
Rodwell C., Aymé S., eds., “2014 Report on the State of the Art of Rare Disease Activities in Europe”,
July 2014.
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©European Union, 2014
2
ACRONYMS
CAT - Committee for Advanced Therapies at EMA
CHMP - Committee for Medicinal Products for Human Use at EMA
COMP - Committee on Orphan Medicinal Products at EMA
DG - Directorate General
DG Enterprise - European Commission Directorate General Enterprise and Industry
DG Research - European Commission Directorate General Research
DG Sanco - European Commission Directorate General Health and Consumers
EC - European Commission
ECRD - European Conference on Rare Diseases
EEA - European Economic Area
EMA - European Medicines Agency
ERN - European reference network
EU - European Union
EUCERD - European Union Committee of Experts on Rare Diseases
EUROCAT - European surveillance of congenital anomalies
EUROPLAN - European Project for Rare Diseases National Plans Development
EURORDIS - European Organisation for Rare Diseases
FDA - US Food and Drug Administration
HLG - High Level Group for Health Services and Medical Care
HTA - Health Technology Assessment
IRDiRC – International Rare Diseases Research Consortium
JA - Joint Action
MA - Market Authorisation
MoH - Ministry of Health
MS - Member State
NBS - New born screening
NCA - National Competent Authorities
NHS - National Health System
PDCO - Paediatric Committee at EMA
RDTF - EC Rare Disease Task Force
WG - Working Group
WHO - World Health Organization
3
GENERAL INTRODUCTION
This document was produced by the Scientific Secretariat of the European Union Committee of Experts on Rare
Diseases (EUCERD), through the EUCERD Joint Action: Working for Rare Diseases (N° 2011 22 01), which covers
a three year period (March 2012 – February 2015).
The European Union Committee of Experts on Rare Diseases (EUCERD) was established in 2009 and its mandate
ended in 2013. It is replaced from 2014 by the Commission Expert Group on Rare Diseases. The EUCERD Joint
Action continues to support the activities of the new Expert Group until 2015.
The present report aims to provide an informative and descriptive overview of rare disease activities at
European Union (EU) and Member State (MS) level in the field of rare diseases and orphan medicinal products
up to the end of 2013. A range of stakeholders in each Member State/country have been consulted during the
elaboration of the report, which has been validated as an accurate representation of activities at national level,
to the best of their knowledge, by the Member State/country representatives of the Commission Expert Group
on Rare Diseases. The reader, however, should bear in mind that the information provided is not exhaustive
and is not an official position of the European Commission, its Agencies or national health authorities.
The report is split into six parts:
Part I: Overview of rare disease activities in Europe
Part II: Key developments in the field of rare diseases in 2013
Part III: European Commission activities in the field of rare diseases
Part IV: European Medicines Agency activities and other European activities in the field of rare diseases
Part V: Activities in EU Member States and other European countries in the field of rare diseases
Part VI: Activities at National level in each EU Member State and other European countries in the field of rare
diseases
Parts I – V also include a description of the methodology, sources and validation process of the entire report,
and a selected bibliography and list of persons having contributed to the report.
The present document contains the information from Parts II and V of the report concerning Switzerland. A list
of contributors to the report and selected sources are in annex of this document. For more information about
the elaboration and validation procedure for the report, please refer to the general introduction of the main
report.
Each year, there are around 15 000 downloads of the different sections of the report combined.
4
RARE DISEASE ACTIVITIES IN SWITZERLAND
Definition of a rare disease
The Therapeutic Products Act (TPA) adopted the European Regulation on Orphan Medicinal Products definition
of a prevalence of no more than 5 in 10 000 individuals and this applies for the simplified authorisation of
orphan medicinal products. Stakeholders in Switzerland accept the European Regulation on Orphan Medicinal
Products definition of a prevalence of no more than 5 in 10 000 individuals.
National plan/strategies for rare diseases and related actions
There is still no national concerted plan or strategy for rare diseases in Switzerland.
With the aim of filling this gap, on 16 December 2010, Ruth Humbel, member of the Health
Commission in the Parliament submitted to the National Council a postulate for "a national strategy for
improving the health situation of people with rare diseases”. The National Council followed the
recommendation of the Federal Council and accepted the claim in March 2011. The Federal Council has
1
consequently assigned the Federal Office of Public Health the task of submitting a proposal. An alliance
encompassing patient organisations, the Swiss Medical Association, university hospitals, the rare disease
informational portal Orphanet-Switzerland and representatives from the pharmaceutical industry, then joined
forces in August 2011 to promote a national strategy for rare diseases in Switzerland. Chaired by National
Councillor Ruth Humbel, this newly-formed community of interest for rare diseases (IG rare diseases) is actively
engaged in advocating the development of a national action plan for the country’s rare disease patients. In
September 2012, National Councillor Guy Parmelin requested information concerning the state of
advancement of the national strategy for rare diseases. The answer of the Federal Council included the
information that a formal meeting between the IG and the Federal Office of Public Health took place on 4 June
2012 to define the expectations and priorities for the development of a national plan. Issues such as financing
diagnostic tests and defining the criteria for centres of expertise have been broached. On Rare Disease Day
2013 Pascal Strupler, Director of the Federal Office of Public Health confirmed that the elaboration of a
2
national concept for rare diseases would take place in the second quarter of 2014 . In 2013 the Federal Office
of Public Health recruited a “Rare diseases project manager” to oversee the assessment of the situation of rare
diseases in Switzerland and bring stakeholders together. A number of stakeholder meetings were organised in
2013 to advance with the elaboration of the concept. In addition a working group of the Swiss Academy of
Science worked on the definition of rare diseases and proposed a set of criteria when establishing reference
centres in Switzerland. The concept focuses on issues such as the difficulties to pose an adequate diagnosis in a
timely fashion, the provision of high quality medical care, mechanisms that strengthen the resources available
to the patients and their relatives as well as to support research projects at national and international level.
The Swiss Conference of the Cantonal Ministers of Public Health (GDK/CDS) also supports the publication of a
manual for the employees of the information and counselling centres for prenatal testing and coordinates the
offer of highly specialised medicine in Switzerland, including rare disease patients. The only specific project for
rare diseases supported by the GDK/CDS is Orphanet Switzerland.
Centres of expertise
Several specialised care centres have been established as centres of reference by reputation, usually in
University Hospitals. In addition to this, the Inter-Cantonal Agreement on Highly Specialised Medical Services
(IAHSMS) coordinated by the GDK/CDS came into effect in 2009 the purpose of which is that “the cantons shall
agree, in the interests of a needs-based, high-quality and economical health care system, to ensure coordination
in relation to the centralisation of highly specialised medical services. This applies to those medical fields and
services that are characterised by their rarity, by their high potential for innovation, by high personnel or
technical costs or by complex treatment procedures. For categorisation as a highly specialised medical service,
at least three of the aforementioned criteria must be met, whereby rarity must always apply”. The appointed
3
centres can be consequently considered as official reference centres of expertise . In 2011, several centres
have been officially appointed in the fields of metabolic diseases, retinoblastoma, primary immunodeficiency in
children, surgery of the liver and biliary tract in children, rare medullar tumours, surgery of epilepsy and
1
http://www.orphanet.ch/PDF/MEDIENMITTEILUNG_Gruendung_IG_Seltene_Krankheiten_f_def.pdf
http://www.orphanet.ch/PDF/ProRaris25022013cloture.pdf
3
http://www.gdk-cds.ch/index.php?id=903&L=1
2
5
neurosurgery of complex vascular anomalies of the central nervous system. In 2013, new centres have been
named in the field of paediatric oncology (haematopoietic stem cells transplants (autologous and allogeneic),
treatment of neuroblastoma, treatment of soft tissue sarcomas and other bone tumours and central nervous
system tumours), adult oncology (haematopoietic stem cells transplants) and cochlear implants.
Registries
There are a number of registries for specific rare diseases in Switzerland. Switzerland contributes/contributed
to the following European registries: AIR, CAPS, E-IMD, E-HOD, TREAT-NMD, EUROCARE-CF and EUROCAT.
Neonatal screening policy
A newborn screening programme covering all of Switzerland is in place and includes screening for
phenylketonuria, congenital hypothyroidism, galactosaemia, congenital adrenal hypoplasia, biotinidase
deficiency, and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. The request to implement the
neonatal screening for cystic fibrosis, initiated by the Swiss Cystic Fibrosis Task Force, was approved from the
Federal Office of Public Health for a 2-year-pilot project starting in January 2011, and extended with an open
end date from 2013.
Genetic testing
The medical genetics speciality exists for laboratory directors (FAMH) and for medical doctors (FMH) and
several specialised care and/or testing centres have been established as centres of reference by reputation,
4
usually in University Hospitals. Genetic testing laboratories require formal authorisation to practice from the
government; more than 60 public and private laboratories provide genetic testing, although not all tests are
reimbursed. Since 2011, interlaboratory comparisons (EQA or other) must be performed at least once per year
for every analysis proposed by genetic testing laboratories. Genetic counselling is formally required and is
usually provided by doctors specialised in medical genetics or by referring doctors.
The efforts of genetic health professionals led to the approval on 2 December 2010 by the Federal
Department of Home Affairs of the introduction (as of 1 April 2011) of an orphan disease regulation for the
reimbursement of genetic laboratory testing of rare genetic diseases by the compulsory health insurance even
if this test did not appear in previous list of approved tests or if the test is carried out abroad. An individual
application for reimbursement is required and has to be submitted to the health insurance medical examiner
(HIME) responsible.
Diagnostic tests are registered as available in Switzerland for 396 genes and an estimated 472 diseases
5
in the Orphanet database ; this information, however, is not yet complete and does not cover all of
Switzerland.
National alliances of patient organisations
Since 2004, Orphanet Switzerland has identified about one hundred rare disease patient organisations, some of
them being related to international networks. Since 2009, the “strategic” position of Orphanet Switzerland with
regards to contacts with patient organisations, has actively contributed to the creation of an Alliance of Rare
Diseases in Switzerland, facing the challenges of uniting patients from four different linguistic areas. ProRaris,
the Swiss Rare Disease Patient Alliance, was founded on 26 June 2010 representing 42 patient organisations.
6
In 2011, ProRaris , the then newly founded Alliance, put all its efforts into increasing community
awareness of rare diseases in Switzerland. In the framework of the third International Rare Disease Day in
Switzerland in February 2013, a conference jointly organized by ProRaris and the newly founded Radiz (Rare
Disease Initiative Zurich) took place at the University of Zurich. The conference topic was “putting together our
know-how to increase the quality of care for rare diseases”. Stakeholders of various fields (politics, insurance,
administration, medicine etc.) were present and discussed issues related to the formation of a national strategy
for rare diseases (see also the announcement of the Director of the Federal Office of Public Health, Mr. Pascal
Strupler above). The event received excellent press coverage, including articles in widely read papers in all
regions of Switzerland, as well as radio and TV-interviews.
At the end of August 2012 ProRaris submitted a case study on the unequal treatment of the
reimbursement of drugs for patients with rare diseases among various insurance companies in different
4
5
Federal Act on Human Genetic Testing (HGTA) of 8 October 2004, http://www.admin.ch/ch/e/rs/8/810.12.en.pdf
Information extracted from the Orphanet database (January 2014).
6
cantons to the director of the Federal Office of Public Health, Mr. Pascal Strupler. In his answer he announced a
close monitoring of the interpretation of articles 71 a and b of the ordinance on health insurance
(Krankenversicherungsverordnung) on which the decisions of the insurance companies are based until the end
7
of 2013. An evaluation was carried out in 2013 .
As a patient representative, ProRaris is part of the “Community of Interest for rare diseases” and is
strongly implied in the elaboration of the national concept for rare diseases.
Sources of information on rare diseases and national help lines
Orphanet activity in Switzerland
Since 2001 there is a dedicated Orphanet team in Switzerland, currently hosted by the Genetics and Laboratory
Medicine Department of the University Hospital of Geneva. This team is composed of a country coordinator
and, since 2011 of 2 information scientists (1 full time position and 1 part time position). Orphanet Switzerland
has a close collaboration with the Health On The Net foundation (HON) for the management of the online
forms. The team is in charge of identifying sources of information, collecting and updating data on rare disease
related services (specialised clinics, medical laboratories, ongoing research, registries, clinical trials and patient
organisations) at national level for entry into the Orphanet database. In 2011 the team launched the Orphanet
8
Switzerland national website and contributes to the dissemination of information regarding the Orphanet
database tool and national initiatives in the field of rare diseases (publications, media coverage, Orphanews,
conferences, booth at annual congresses of learned societies, etc.). The website is currently only available in
French. Additional resources are necessary to translate the content in German and Italian.
As a collaborating partner of the Orphanet Joint Action, Orphanet Switzerland is not entitled to the EU
funding and must ensure its funding at national level. In 2011, the Swiss Conference of the Cantonal Ministers
of Public Health (GDK/CDS) guaranteed a global budget for the period 2011-2014 for Orphanet.
Official information centre for rare diseases
There is no official information centre for rare diseases, however Orphanet is the reference portal for
information on rare diseases and orphan medicinal products in Switzerland.
Help line
There is currently no help line available for rare diseases in Switzerland. However, a joint venture between the
University Hospital of Lausanne (CHUV) and the University Hospital of Geneva (HUG) with the support of
Orphanet Switzerland was initiated in 2012 in order to create a regional portal on rare diseases and to establish
a helpline which was launched in 2013 www.infomaladiesrares.ch). This francophone portal provides access to
current information on specialised clinics and allows a greater visibility of local and regional resources, based
on existing Orphanet data. This service will be completed by a Helpline in 2014.
Other sources of information on rare diseases
The GDK/CDS supports the establishment of cantonal information and counselling centres for prenatal testing
and the HGTA requires non directive genetic counselling before and after genetic testing. However, the
existence of four national languages complicates the organisation of collective national projects. Orphanet
Switzerland is currently the only rare disease project supported financially by the GDK/CDS.
The Federal Office of Public health publishes the list of the laboratories with an authorisation to
9
execute genetic tests.
In 2013 the “Romand (French speaking part of Switzerland) portal on rare diseases” www.infomaladies-rares.ch was launched.
Guidelines
No specific information reported.
Training and education initiatives
On 4 -6 July 2013 Radiz (Rare Diseases Initiative Zürich), a clinical research priority program of the University of
Zurich, organised its first yearly summer school on rare diseases at the lake of Zurich. The summer school’s
main goal is to motivate bright young clinicians and scientists to work in the field of rare disease and to make
7
Evaluation of the implementation of article 71 a and 71 b KVV, accessible at
http://www.bag.admin.ch/evaluation/01759/02074/13897/index.html?lang=de
8
http://www.orphanet.ch
9
http://www.bag.admin.ch/themen/medizin/00683/02724/03677/index.html?lang=de
7
them aware of the many opportunities, but also the challenges. The summer school focuses on a wide variety
of subjects in the rare disease arena, from disease mechanisms and animal models, to improving diagnoses and
novel therapeutics, with lectures and workshops on drug development, model organisms, how to choose
clinical endpoints, clinical trials, regulatory aspects, patient registries, patient initiated research, ethical
considerations, as well as what rare diseases may tell us about common diseases. The 2013 summer school was
nd
attended by 30 young clinicians and researchers. A 2 Radiz summer school will take place in July 2014.
National rare disease events in 2013
To mark Rare Disease Day 2013, a number of events were organised and initiatives launched. On 22 February
the University of Zurich, University Children’s Hospital Zurich and University Hospital Zurich joined forces to
launch Radiz with a kick-off meeting followed by a networking dinner with the Gebert-Rüf foundation and a
10
press release entitled “An end to the Odyssey” . The following day (23 February 2013) ProRaris, in partnership
rd
with Radiz, organised for the 3 year in a row a conference to discuss the situation for rare disease patients in
Switzerland at the University of Zurich which was attended by stakeholders and key political decision makers in
Switzerland. The Day was also marked by the launch of the “Romand (French speaking part of Switzerland)
portal on rare diseases” www.info-maladies-rares.ch.
Hosted rare disease events in 2013
Amongst the rare disease events hosted in Switzerland in 2013 and announced in OrphaNews was
Autoinflammation 2013 - 7th International Congress of the International Society of Systemic AutoInflammatory Diseases (22- 26 May 2013, Lausanne).
Research activities and E-Rare partnership
National research activities
Although there is no specific national budget for rare disease research, the Telethon Suisse raises funds for rare
diseases, specifically for neuromuscular disorders. Moreover, many projects on rare diseases are supported by
the Swiss National Science Foundation and a few public foundations (i.e. the Gebert Rüf Foundation and the
BLACKSWAN Foundation). A new clinical research priority program of the University of Zurich - Radiz - was
started in the fall of 2012. Radiz is funding translational research projects and supporting and training young
clinicians and researchers with the aim to increase awareness for rare diseases and stimulate interdisciplinary
collaborations.
11
The Gebert Rüf Foundation , a Swiss grant programme specifically for rare diseases, announced its
fifth call for projects in 2013. The independent foundation is committing CHF2 million (€1.66 million) per year
to researchers based at Swiss universities, university hospitals, federal institutes of technology and universities
of applied sciences. The Rare Diseases – New Approaches grant programme, which launched in 2009, is
established as a five-year area of activity. The initiative aims at developing and implementing innovative
technologies or approaches in the diagnosis and treatment of rare diseases. In 2013 5 finalists were chosen
from the 73 submissions received.The knowledge gained should lead to a better understanding of the genetic,
molecular and biochemical processes underlying these diseases and pave the way towards new forms of
treatment or diagnostics. A further aim is to improve the transfer of basic research findings into clinical
practice. The focus must be on innovation, feasibility and effectiveness, while attaining high scientific and
technological standards.
6
The BLACKSWAN Foundation is active since 2009 and supports advanced research into rare diseases
in order to complement the chronic lack of public and private funds in this area. The principal goals are to
promote and fund therapeutic application of new scientific protocols in order to find effective treatments and
to increase public understanding and awareness of rare diseases.
Participation in European research projects
Swiss teams participate/have participated in 55 rare disease related FP7 projects and 2 projects were
coordinated by a Swiss team.
10
www.orphanet.ch/PDF/press_release_Radiz.pdf
http://www.grstiftung.ch/en.html & http://www.grstiftung.ch/en/portfolio/activity/active_areas/rare-diseases.html
6
http://www.blackswanfoundation.ch/
11
8
E-Rare
Since 2013 Switzerland is a member of the E-Rare project and the BLACKSWAN Foundation is an active
th
collaborator of the network. Switzerland participated in the 5 Joint Transnational call in 2013 with Swiss
teams participating in 2 out of the 12 consortia selected for funding.
IRDiRC
Swiss funding agencies have not yet committed funding to the International Rare Diseases Research
Consortium (IRDiRC).
Orphan medicinal products
The Swiss Orphan Drug Regulation was introduced in 2006: this regulation stipulates that orphan medicinal
product status applies to products treating diseases affecting no more than 1 in 2000 persons. The availability
of orphan medicinal products has been improved since 2006 thanks to the simplified authorisation procedures
and the recognition of the orphan medicinal product status for any drug for which this status has been granted
in a country with a comparable drugs authority.
Orphan medicinal product committee
No specific activity reported.
Orphan medicinal product incentives
Companies acquiring orphan medicinal product designation for their products are allowed tax exemption for
certain administrative taxes but are not however allowed market exclusivity.
Orphan medicinal product market availability situation
8
140 active ingredients for 225 indications subject to the orphan drugs regulation are marketed in Switzerland .
Orphan medicinal product pricing policy
Compared to European Member States the pricing and reimbursement procedure in Switzerland is considered
12
relatively quick and is speeded up when drugs target unmet medical needs or show high therapeutic benefit .
Orphan medicinal product reimbursement policy
On 23 November 2010 the Federal Supreme Court decided that a health insurer was not obliged to reimburse
the treatment costs (500'000 Swiss Francs per year) of Myozyme® for a patient with Pompe Disease, on the
grounds that the therapy costs are not proportionate to the expected benefits for this specific patient. Based
on this case, the Federal Court of Justice decided to fix limits for reimbursements, and although regretting the
risk of unfairness, admits that rationing must be introduced. A limit of 100,000 Swiss Francs (€83’000) per year
per patient has been proposed.
As of 2 February 2011 the Federal Council put two new articles of the Federal Ordinance on the Health
Insurance into force stipulating that the off label use of drugs and the treatment with drugs not listed on the
list of the reimbursed drugs (Spezialitätenliste) is admitted in case of life-threatening diseases if an important
therapeutic benefit is expected from the treatment and if there is no reimbursed alternative. The Ordinance
gives the insurers the freedom to decide about the maximum amount to be reimbursed.
Other initiatives to improve access to orphan medicinal products
Other therapies for rare diseases
Orphan devices
7
8
Orphan Drugs in Europe : Pricing, Reimbursement, Funding and Market Access Issues, Donald Macarthur (2011) p120
http://www.swissmedic.ch/daten/00081/index.html?lang=de
9
Specialised social services
DEVELOPMENT OF RARE DISEASE ACTIVITIES IN
2013 IN SWITZERLAND
National plan/strategies for rare diseases and related actions
On Rare Disease Day 2013 Pascal Strupler, Director of the Federal Office of Public Health confirmed that the
13
elaboration of a national concept for rare diseases would take place in the second quarter of 2014 . In 2013
the Federal Office of Public Health recruited a “Rare diseases project manager” to oversee the assessment of
the situation of rare diseases in Switzerland and bring stakeholders together. A number of stakeholder
meetings were organised in 2013 to advance with the elaboration of the concept. In addition a working group
of the Swiss Academy of Science worked on the definition of rare diseases and proposed a set of criteria when
establishing reference centres in Switzerland. The concept focuses on issues such as the difficulties to pose an
adequate diagnosis in a timely fashion, the provision of high quality medical care, mechanisms that strengthen
the resources available to the patients and their relatives as well as to support research projects at national
and international level.
Centres of expertise
In 2013, new centres have been named in the field of paediatric oncology (haematopoietic stem cells
transplants (autologous and allogeneic), treatment of neuroblastoma, treatment of soft tissue sarcomas and
other bone tumours and central nervous system tumours), adult oncology (haematopoietic stem cells
transplants) and cochlear implants
Neonatal screening policy
The request to implement the neonatal screening for cystic fibrosis, initiated by the Swiss Cystic Fibrosis Task
Force, was approved from the Federal Office of Public Health for a 2-year-pilot project starting in January 2011,
and extended with an open end date from 2013.
National alliances of patient organisations
In the framework of the third International Rare Disease Day in Switzerland in February 2013, a conference
jointly organized by ProRaris and the newly founded Radiz (Rare Disease Initiative Zurich) took place at the
University of Zurich. The conference topic was “putting together our know-how to increase the quality of care
for rare diseases”. Stakeholders of various fields (politics, insurance, administration, medicine etc.) were
present and discussed issues related to the formation of a national strategy for rare diseases (see also the
announcement of the Director of the Federal Office of Public Health, Mr. Pascal Strupler above). The event
received excellent press coverage, including articles in widely read papers in all regions of Switzerland, as well
as radio and TV-interviews.
At the end of August 2012 ProRaris submitted a case study on the unequal treatment of the
reimbursement of drugs for patients with rare diseases among various insurance companies in different
cantons to the director of the Federal Office of Public Health, Mr. Pascal Strupler. In his answer he announced a
close monitoring of the interpretation of articles 71 a and b of the ordinance on health insurance
(Krankenversicherungsverordnung) on which the decisions of the insurance companies are based until the end
14
of 2013. An evaluation was carried out in 2013 .
13
http://www.orphanet.ch/PDF/ProRaris25022013cloture.pdf
Evaluation of the implementation of article 71 a and 71 b KVV, accessible at
http://www.bag.admin.ch/evaluation/01759/02074/13897/index.html?lang=de
14
10
Sources of information on rare diseases and national help lines
Help line
There is currently no help line available for rare diseases in Switzerland. However, a joint venture between the
University Hospital of Lausanne (CHUV) and the University Hospital of Geneva (HUG) with the support of
Orphanet Switzerland was initiated in 2012 in order to create a regional portal on rare diseases and to establish
a helpline which was launched in 2013 www.infomaladiesrares.ch). This francophone portal provides access to
current information on specialised clinics and allows a greater visibility of local and regional resources, based
on existing Orphanet data. This service will be completed by a Helpline in 2014.
Other sources of information on rare diseases
The GDK/CDS supports the establishment of cantonal information and counselling centres for prenatal testing
and the HGTA requires non directive genetic counselling before and after genetic testing. However, the
existence of four national languages complicates the organisation of collective national projects. Orphanet
Switzerland is currently the only rare disease project supported financially by the GDK/CDS.
The Federal Office of Public health publishes the list of the laboratories with an authorisation to
15
execute genetic tests.
In 2013 the “Romand (French speaking part of Switzerland) portal on rare diseases” www.infomaladies-rares.ch was launched.
Guidelines
No specific information reported.
Training and education initiatives
On 4 -6 July 2013 Radiz (Rare Diseases Initiative Zürich), a clinical research priority program of the University of
Zurich, organised its first yearly summer school on rare diseases at the lake of Zurich. The summer school’s
main goal is to motivate bright young clinicians and scientists to work in the field of rare disease and to make
them aware of the many opportunities, but also the challenges. The summer school focuses on a wide variety
of subjects in the rare disease arena, from disease mechanisms and animal models, to improving diagnoses and
novel therapeutics, with lectures and workshops on drug development, model organisms, how to choose
clinical endpoints, clinical trials, regulatory aspects, patient registries, patient initiated research, ethical
considerations, as well as what rare diseases may tell us about common diseases. The 2013 summer school was
nd
attended by 30 young clinicians and researchers. A 2 Radiz summer school will take place in July 2014.
National rare disease events in 2013
To mark Rare Disease Day 2013, a number of events were organised and initiatives launched. On 22 February
the University of Zurich, University Children’s Hospital Zurich and University Hospital Zurich joined forces to
launch Radiz with a kick-off meeting followed by a networking dinner with the Gebert-Rüf foundation and a
16
press release entitled “An end to the Odyssey” . The following day (23 February 2013) ProRaris, in partnership
rd
with Radiz, organised for the 3 year in a row a conference to discuss the situation for rare disease patients in
Switzerland at the University of Zurich which was attended by stakeholders and key political decision makers in
Switzerland. The Day was also marked by the launch of the “Romand (French speaking part of Switzerland)
portal on rare diseases” www.info-maladies-rares.ch.
Hosted rare disease events in 2013
Amongst the rare disease events hosted in Switzerland in 2013 and announced in OrphaNews was
Autoinflammation 2013 - 7th International Congress of the International Society of Systemic AutoInflammatory Diseases (22- 26 May 2013, Lausanne).
Research activities and E-Rare partnership
National research activities
17
The Gebert Rüf Foundation , a Swiss grant programme specifically for rare diseases, announced its fifth call for
projects in 2013. The independent foundation is committing CHF2 million (€1.66 million) per year to
researchers based at Swiss universities, university hospitals, federal institutes of technology and universities of
15
http://www.bag.admin.ch/themen/medizin/00683/02724/03677/index.html?lang=de
www.orphanet.ch/PDF/press_release_Radiz.pdf
17
http://www.grstiftung.ch/en.html - http://www.grstiftung.ch/en/portfolio/activity/active_areas/rare-diseases.html
6
16
11
applied sciences. The Rare Diseases – New Approaches grant programme, which launched in 2009, is
established as a five-year area of activity. The initiative aims at developing and implementing innovative
technologies or approaches in the diagnosis and treatment of rare diseases. In 2013 5 finalists were chosen
from the 73 submissions received.The knowledge gained should lead to a better understanding of the genetic,
molecular and biochemical processes underlying these diseases and pave the way towards new forms of
treatment or diagnostics. A further aim is to improve the transfer of basic research findings into clinical
practice. The focus must be on innovation, feasibility and effectiveness, while attaining high scientific and
technological standards.
E-Rare
Since 2013 Switzerland is a member of the E-Rare project and the BLACKSWAN Foundation is an active
th
collaborator of the network. Switzerland participated in the 5 Joint Transnational call in 2013 with Swiss
teams participating in 2 out of the 12 consortia selected for funding.
12
LIST OF CONTRIBUTIONS18
Contributions in 2010
Loredana D’Amato Sizonenko (Orphanet Switzerland, University Hospitals of Geneva)
Matthias Baumgartner (University Children’s Hospital, University of Zurich)
Andreas Huber (Kantonsspital, Aarau)
Peter Miny (University Hospital, University of Basel)
Mike Morris (Division of Medical Genetics, University Hospitals, Geneva)
Cristina Benedetti (Secretary of the Expert Commission for Human Genetic Testing, Federal Office of Public Health)
Sabina Gallati (EUCERD Representative Switzerland, University Hospital Inselspital, University of Bern)
Cristina Benedetti (Secretary of the Expert Commission for Human Genetic Testing , Federal Office of Public Health)
ProRaris (Swiss Rare Disease Alliance)
Matthias Baumgartner (Radiz – Rare Disease Initiative Zurich, University Children’s Hospital, University of Zurich, Member of
the Expert Commission for Human Genetic Testing, EUCERD Alternate Switzerland)
Thomas Binz (Head of the Section of Biosafety and Human Genetics, Federal Office of Public Health)
Caroline Clarinval (Project Manager Rare Diseases, Federal Office of Public Health)
Sabina Gallati (President of the Expert Commission for Human Genetic Testing, EUCERD Representative Switzerland,
University Hospital Inselspital, University of Bern)
Andreas Huber (Member of the Expert Commission for Human Genetic Testing, Kantonsspital Aarau, Aarau)
Validated by:
Sabina Gallati (ECEGRD Representative Switzerland, President of the Expert Commission for Human Genetic Testing,
University Hospital Inselspital, University of Bern)
18
The contributors and validators of the report have contributed information which is accurate to the best of their knowledge. However,
readers should take note that the contents of this report are illustrative and not exhaustive.
13
SELECTED BIBLIOGRAPHY AND SOURCES19
Swiss Telethon
http://www.telethon.ch/
Orphanet Switzerland national website
http://www.orpha-net.ch
ProRaris
www.proraris.ch
Gebert Rüf Stiftung Foundation
http://www.grstiftung.ch/en.html
Black Swan Foundation
Association Enfance et Maladies Orphelines
http://www.aemo.ch/index.php?page=news/afficher&idNew=22
Portail romand d’information des maladies rares
www.infomaladiesrares.ch
Radiz
http://www.Radiz.uzh.ch/index.html
19
All websites and documents were last accessed in May 2014.
14

Report on the State of the Art of Rare Disease Activities in

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